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Genetic risk assessment

Genetic risk is the likelihood that a person has a gene mutation that puts them at an increased risk for cancer. Genetic risk assessment determines your personal risk for cancer based on your family medical history. Having a history of cancer in the family doesn’t always mean that the cancer is hereditary. Only a small number of cancers are related to inherited gene mutations. Genetic testing may be done after genetic risk assessment to identify if there is a gene mutation.

Talk to your doctor if you have close relatives (parents, brothers, sisters or children) who have ever been diagnosed with cancer and you are concerned about you or your children having an increased risk.

How genetic risk assessment is done

Genetic risk assessment is often done by genetics specialists (medical geneticists) and by genetic counsellors. A consultation typically starts with a detailed discussion about your medical history and your family history of cancer. The genetics professional also assesses whether or not you need genetic testing to confirm or rule out a genetic condition. Speaking with a genetics professional can be helpful, even if testing for a specific condition is not available.

Family health history

During a genetic risk assessment, you will be asked about relatives in your family who had cancer. People are often asked to go back through as many generations as possible (usually 3 generations) on both sides of the family (the mother’s and the father’s side). The genetics professional needs to collect as much information as possible about the type of cancer your relatives had and their ages when they were diagnosed. This is called a pedigree (family tree) analysis. A relative’s medical records are often needed to confirm the cancer diagnosis. You may need to contact health facilities for this information. Genetic counsellors may be able to help you collect this information by giving you the necessary consent forms to release the medical records.

Genetic counselling

Once the family tree for cancer history is done, the genetics professional studies (analyzes) the information to see if you qualify for genetic testing, counselling or a special research study. Genetic counsellors give you information about your genetic risk and suggestions for future action. They also provide support and follow-up. You may meet with other healthcare professionals too.

  • If you are offered genetic testing, the genetic counsellor will discuss how these tests may affect you and your family. The genetic counsellor will also give you an opportunity to ask questions and discuss any concerns you may have.
  • If genetic testing is not recommended, the genetic counsellor may do a risk assessment and make suggestions for early detection or monitoring and prevention.

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Issues related to genetic risk assessment

You should be aware of the issues around genetic risk assessment and genetic testing. These issues are different for each person.

  • Research has shown that people have strong and differing opinions about genetic risk assessment. Some people want to know about their risk, while others prefer not to know.
  • You may worry about the impact the information may have on your job, your relationships and your family.
  • You will want to think carefully about telling other family members about the results of your genetic risk assessment. Some people have found that the best thing to do is to let their family members know they have had an assessment done and to share the results, if their relatives want to know.
  • You may be concerned about who will know the results of your risk assessment. There are some rules and procedures in place to help avoid the misuse of this information. Genetic risk assessment information is confidential and the information is not released without your written consent.
  • You may have concerns about future health risk and health or life insurance or employment opportunities. The possibility of genetic discrimination from an insurance company or employer is a common concern. Talk to the genetic counsellor about your rights and responsibilities in these areas.
  • You may have concerns about your children’s risk of developing cancer. It is upsetting to think that you may have passed on a gene mutation to your child. It is important to remember that genetics research is continually improving ways of preventing, detecting and treating cancer, which will benefit children in the future.

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Photo of Rayjean Hung Dr Hung helped identify genetic mutations linked to lung cancer risk.

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